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Publications by Richard J Rodenburg

Fatal Neonatal Encephalopathy and Lactic Acidosis Caused by a Homozygous Loss-Of-Function Variant in COQ9

European Journal of Human Genetics

English

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome With Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

Internal Medicine

Molecular Biology

English

Related publications

11. Fatal Congenital Lactic Acidosis in Two Siblings

Pediatric Research

English

Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

English

Profound Intellectual Disability Caused by Homozygous TRAPPC9 Pathogenic Variant in a Man From Malta

Molecular genetics & genomic medicine

Molecular Biology

English

Spectral-Domain Optical Coherence Tomography in Mitochondrial Encephalopathy, Lactic Acidosis, and Strokelike Episodes

Canadian Journal of Ophthalmology

English

Mutation in the Mitochondrial tRNAVal Causes Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes

Molecular Medicine

Molecular Biology

English

Lactic Acidosis.

English

In Vitroactivation of Complement and Contact System by Lactic Acidosis

Mediators of Inflammation

English

Biguanides and Lactic Acidosis in Diabetics.

English

Lactic Acidosis in Metformin Therapy: Searching for a Link With Metformin in Reports of ‘Metformin-Associated Lactic Acidosis’

Diabetes, Obesity and Metabolism

Internal Medicine

English